A Familial Case Of Pain, Paresthesia And Foot Drop With Exertion - Page #1

Author: Snigdha Kalidindi, MD
Co Author #1: Amy RomandineKratz, MD
Co Author #2: Jeremy Metzler, MD
Editor: Justin Mark Young, MD

Patient Presentation:
Six individuals from the same extended family (siblings and their kids) presented at different stages of their lives with symptoms of pain and weakness in the leg with exertion that resolved with rest.

6 members -

1) Sibling A:
25-year-old female presented with bilateral lower extremity pain, numbness and tingling in the dorsal aspect of her foot after running. This had been ongoing for the previous 10 years.
She had been through home therapy, activity modification, anti-inflammatory medication, and stretching with no improvement.

2) Sibling B:
44-year-old female presented with some recurrent bilateral lower leg pain that had been ongoing for about the previous 20 years. Walking or jogging increased lower leg pain as well as numbness and tingling in the dorsal and lateral aspects of her feet. The pain got worse as she increased the duration of her activity. Symptoms resolved after a few minutes of rest.

3) Daughter A of sibling B:
22-year-old female presented with bilateral lower limb pain. She was evaluated for similar symptoms 2 years earlier. She was not evaluated further at that time. Her symptoms of discomfort/pain started in both her calves when walking up hill and on trails. She also experienced numbness, tingling and foot drop.

4) Daughter B of sibling B:
19-year-old female presented with bilateral lower limbs pain. She had a left labral tear that later resolved. However, her bilateral leg pain did not resolve. She noticed that the symptoms worsened with running but not worsened significantly with biking. Her symptoms were later significant even with biking or any form of exercise. She was experiencing increasing discomfort/pain in the anterior and lateral aspects of both the legs. She also experienced numbness and tingling in the dorsal aspect that led to foot drop. These symptoms had been ongoing for the previous 5 years.

Sibling C - apparently had similar symptoms but was never officially evaluated.

5) Son of Sibling C:
16-year-old male presented with ongoing bilateral lower leg pain for about 2 years. He noticed pain in the calves and lower legs with paresthesias once he began to run. He had to stop running because of severe symptoms. His symptoms resolved after 5 to 10 mins of rest.

6) Daughter of Sibling C:
18-year-old female presented with ongoing bilateral lower limb pain and paresthesia with exercise for the previous 1 year that resolved with rest. She underwent gait modification and physical therapy but symptoms never resolved completely. Her brother was diagnosed with posterior compartment syndrome.

Physical Exam:
Vitals were within range and age appropriate at presentation.
Cardiovascular, respiratory and abdominal exams were normal.

MSK exam showed:
Inspection of bilateral lower extremities revealed no erythema, no edema, no skin rash or lesions.
Palpation, no bony tenderness, compartments soft and nontender. Full knee and ankle range of motion. 5/5 hip flexion, knee extension, flexion, dorsiflexion, plantarflexion, great toe extension, inversion, and eversion. Ankles and knees were ligamentously stable. Thompson test was negative, normal neurovascular exam distally.

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